A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509322



Internal ID15825348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126456414..126536478hg38UCSC Ensembl
Outerchr9:129218693..129298757hg19UCSC Ensembl
Outerchr9:128258514..128338578hg18UCSC Ensembl
Outerchr9:126298247..126378311hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383361
hg193361
hg183361
hg173361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619561
SamplesNA10860
Known GenesMVB12B
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509322
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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